• Gene id: 5426

Gene Summary

• Gene Symbol: POLE   Gene   UCSC   Ensembl
• Aliases: CRCS12, FILS, IMAGEI, POLE1
• Gene name: DNA polymerase epsilon, catalytic subunit
• Alternate names: DNA polymerase epsilon catalytic subunit A, 3'-5' exodeoxyribonuclease, DNA polymerase II subunit A, DNA polymerase epsilon catalytic subunit protein, polymerase (DNA directed), epsilon, catalytic subunit, polymerase (DNA) epsilon, catalytic subunit,
• Gene location: 12q24.33 (132687518: 132623757)     Exons: 51     NC_000012.12
• Gene summary(Entrez): This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo
• OMIM: 615288

Protein Summary

• Protein general information: Q07864  
  • Name: DNA polymerase epsilon catalytic subunit A (EC 2.7.7.7) (3' 5' exodeoxyribonuclease) (EC 3.1.11. ) (DNA polymerase II subunit A)
  • Length: 2286  
  • Mass: 261518
• Sequence:

  MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKTGWLINMHPTEILDED
  KRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFLSKKFQGKIAKVETVPKEDLDLPNHLVGLKR
  NYIRLSFHTVEDLVKVRKEISPAVKKNREQDHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYD
  VPYHIRLSIDLKIHVAHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI
  DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMVTYNGDFFDWPFVEAR
  AAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVGSHNLKAAAKAKLGYDPVELDPEDMCRMATE
  QPQTLATYSVSDAVATYYLYMKYVHPFIFALCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFN
  KLTDDGHVLDSETYVGGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC
  DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPGANCQRKMAWQWRGEF
  MPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEKRRLADYCRKAYKKIHITKVEERLTTICQRE
  NSFYVDTVRAFRDRRYEFKGLHKVWKKKLSAAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGAR
  WYSMEMAGIVCFTGANIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM
  VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFNEDGSLAELKGFEVKR
  RGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSKAANMPDSELFELISENRSMSRKLEDYGEQK
  STSISTAKRLAEFLGDQMVKDAGLSCRYIISRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIR
  AILDWDYYIERLGSAIQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA
  SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPALGTSQEEWLVWLRFH
  KKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLRRTARSILDLPWQIVQISETSQAGLFRLWAL
  VGSDLHCIRLSIPRVFYVNQRVAKAEEGASYRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEG
  VYETQVPLLFRALVHLGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF
  GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETDLKTICRAIQRFLLAY
  KEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYGVLDWQRHGARRMIRHYLNLDTCLSQAFEMS
  RYFHIPIGNLPEDISTFGSDLFFARHLQRHNHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTV
  CVELDLQNLAVNTILQSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV
  GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLGSSVIYANFNRIILCT
  KKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPSNYGGIKGKVSSRIHCGLQDSQKAGGAEDEQ
  ENEDDEEERDGEEEEEAEESNVEDLLENNWNILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPV
  RRRGASQLSQEAEGAVGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP
  ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRSCNFCRDLDLCKDSSF
  SEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLVCLKCRGVKETSMPVYCSCAGDFALTIHTQV
  FMEQIGIFRNIAQHYGMSYLLETLEWLLQKNPQLGH

• Structural information:
  • Interpro: IPR006172  IPR006133  IPR006134  IPR042087  IPR013697   IPR029703  IPR012337  IPR036397  
  • PDB: 5VBN
  • PDBsum: 5VBN
  • DIP: 24243
  • STRING: ENSP00000322570
• Other Databases: GeneCards:  POLE  Malacards:  POLE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008622	epsilon DNA polymerase complex	IBA	cellular component
GO:0008310	single-stranded DNA 3'-5' exodeoxyribonuclease activity	IBA	molecular function
GO:0006297	nucleotide-excision repair, DNA gap filling	IBA	biological process
GO:0006287	base-excision repair, gap-filling	IBA	biological process
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0045004	DNA replication proofreading	IBA	biological process
GO:0006272	leading strand elongation	IBA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0008622	epsilon DNA polymerase complex	IDA	cellular component
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008622	epsilon DNA polymerase complex	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0006260	DNA replication	TAS	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0008622	epsilon DNA polymerase complex	IDA	cellular component
GO:0006270	DNA replication initiation	TAS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0032201	telomere maintenance via semi-conservative replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0006260	DNA replication	IMP	biological process
GO:0006297	nucleotide-excision repair, DNA gap filling	IMP	biological process
GO:0000731	DNA synthesis involved in DNA repair	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair
hsa03030	DNA replication
hsa03410	Base excision repair

Diseases

Associated diseases	References
IMAGE-I syndrome	KEGG:H02369
FILS syndrome	KEGG:H02370
IMAGE-I syndrome	KEGG:H02369
FILS syndrome	KEGG:H02370
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray